Bone scan findings in craniometaphyseal dysplasia

Clin Nucl Med. 1993 Feb;18(2):137-9. doi: 10.1097/00003072-199302000-00011.


Craniometaphyseal dysplasia is a rare genetic bone disorder characterized by undertubulation of the long bones, especially in the lower extremities, and sclerosis of the skull base. Differentiation from other sclerosing bone dysplasias, including metaphyseal dysplasia (Pyle's disease), craniodiaphyseal dysplasia, and diaphyseal dysplasia is based largely on characteristic radiographic findings. Radionuclide bone scans usually are not necessary for diagnosis, but are helpful in demonstrating the abnormal bone metabolism. The authors report the first whole-body bone images in a patient with craniometaphyseal dysplasia, demonstrating the abnormal bone activity over time.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental / diagnostic imaging*
  • Bone Diseases, Developmental / genetics
  • Child
  • Humans
  • Infant, Newborn
  • Male
  • Radionuclide Imaging
  • Skull / abnormalities*
  • Skull / diagnostic imaging
  • Technetium Tc 99m Medronate


  • Technetium Tc 99m Medronate